Anatomical and functional abnormalities on MRI in kabuki syndrome

Anatomical and functional abnormalities on MRI in kabuki syndrome

Kabuki syndrome (KS) is a rare congenital disorder (1/32000 births) characterized by distinctive facial features, intellectual disability, short stature, and dermatoglyphic and skeletal abnormalities. In the last decade, mutations in KMT2D and KDM6A were identified as a major cause of kabuki syndrom...

Full description

Bibliographic Details
Main Authors: Jennifer Boisgontier, Jean Marc Tacchella, Hervé Lemaître, Natacha Lehman, Ana Saitovitch, Vincent Gatinois, Guilaine Boursier, Elodie Sanchez, Elza Rechtman, Ludovic Fillon, Stanislas Lyonnet, Kim-Hanh Le Quang Sang, Genevieve Baujat, Marlene Rio, Odile Boute, Laurence Faivre, Elise Schaefer, Damien Sanlaville, Monica Zilbovicius, David Grévent, David Geneviève, Nathalie Boddaert
Format: Article
Language:English
Published: Elsevier 2019-01-01
Series:NeuroImage: Clinical
Online Access:http://www.sciencedirect.com/science/article/pii/S2213158218303589

Internet

http://www.sciencedirect.com/science/article/pii/S2213158218303589

Similar Items